食管鳞状细胞癌中的异质性基因组畸变：综述
Heterogeneous genomic aberrations in esophageal squamous cell carcinoma: a review.
作者信息
Li Renling, Li Peng, Xing Wenqun, Qiu Huiling
机构信息
Quality and Standards Academy, Shenzhen Technology University Shenzhen 518060, China.
Department of Thoracic Surgery, The Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital Zhengzhou 450008, China.
出版信息
Am J Transl Res. 2020 May 15;12(5):1553-1568. eCollection 2020.
Abstract
Esophageal cancer (EC) causes hundreds of thousands of deaths a year worldwide, especially the major subtype esophageal squamous cell carcinoma (ESCC). With the advent of next-generation sequencing and the availability of commercial microarrays, abnormities in genetic levels have been revealed in various independent researches. High frequencies of structure variations (SVs), single nucleotide variations (SNVs) and copy-number alterations (CNAs) in ESCCs are uncovered, and ESCC shows high levels of inter- and intratumor heterogeneity, implying diverse evolutionary trajectories. This review tries to explain the pathogenesis of ESCC on the scope of most often mutated genes based on prior studies, hopes to offer some hints for diagnosis and therapy in clinic.
摘要
食管癌（EC）每年在全球导致数十万人死亡，尤其是主要亚型食管鳞状细胞癌（ESCC）。随着下一代测序技术的出现以及商业微阵列的可得性，在各种独立研究中揭示了基因水平的异常。在ESCC中发现了高频的结构变异（SVs）、单核苷酸变异（SNVs）和拷贝数改变（CNAs），并且ESCC显示出高水平的肿瘤间和肿瘤内异质性，这意味着存在多种进化轨迹。本综述试图基于先前的研究，在最常发生突变的基因范围内解释ESCC的发病机制，希望能为临床诊断和治疗提供一些线索。
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